A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5595929



Internal ID21544536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30385345..30385582hg38UCSC Ensembl
chr17:28712363..28712600hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17088449
SamplesNA20847
Known GenesCPD
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5595929
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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